Wales joins 100,000 Genomes Project to tackle rare diseases

The 100,000 Genomes Project has been extended to Wales, with an initial 420 rare disease patients and patients' relatives set to have their whole genomes sequenced.

The Welsh Government announced the expansion of the project this month, agreed between Cardiff and Vale University Health Board, Cardiff University and Genomics England.

'Genomics is transforming healthcare and our ability to diagnose and treat rare disease and cancer,' said Professor Mark Caulfield, Genomics England Chief Scientist. 'In joining the rare disease programme of the 100,000 Genomes Project, Wales has placed itself at the centre of genomic medicine revolution that will greatly improve patient outcomes.'

Genome sequencing can help to find identify and diagnose many rare diseases. About 80 percent of rare diseases have a genetic element, according to Rare Disease UK. Analysis of patients' whole genomes can cut short the 'diagnostic odyssey', which can take years of uncertainty before reaching a firm conclusion. 

'Patients in Wales with rare conditions in whom routine testing failed to make a diagnosis now have a chance to access the most comprehensive genetic test available; sequencing of their entire genome,' said Professor Julian Sampson, leader of the project in Wales and Director of the Division of Cancer and Genetics at Cardiff University School of Medicine and Honorary Consultant in Clinical Genetics with Cardiff and Vale University Health Board. 'This will have far-reaching benefits for the understanding, diagnosis and treatment of many conditions.'

The 100,000 Genomes Project aims to sequence 100,000  genomes from 70,000 people with rare diseases, their families and people with cancer. The project is about halfway through, and expected to conclude at the end of 2018. 

The project will be carried out at the first Genomic Medicine Centre in Wales, based at the University Hospital of Wales site in Cardiff. The new centre has been backed by the Welsh Government, with £2.4 million, and the Medical Research Council, with £1m. 

Dr Nathan Richardson, head of molecular and cellular medicine at the MRC, said: 'We are excited by the prospects of people in Wales – and throughout the UK – who are affected by a rare condition and will benefit hugely from a new era of genomic medicine.'